"CARD14-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1694250	NM_001366385.1(CARD14):c.-8G>T	CARD14	Single nucleotide variant (5 prime UTR variant +1 more)	CARD14-related disorder +1 more	GBenign
Select item 722898	NM_001366385.1(CARD14):c.27C>T (p.Ser9=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	CARD14-related disorder +3 more	GBenign/Likely benign
Select item 741003	NM_001366385.1(CARD14):c.159C>T (p.Asp53=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +2 more	GLikely benign
Select item 68777	NM_001366385.1(CARD14):c.185G>A (p.Arg62Gln)	CARD14 (R62Q)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 662399	NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp)	CARD14 (R69W)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 761533	NM_001366385.1(CARD14):c.312C>T (p.Thr104=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	CARD14-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 527878	NM_001366385.1(CARD14):c.329T>C (p.Val110Ala)	CARD14 (V110A)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GBenign/Likely benign
Select item 847232	NM_001366385.1(CARD14):c.433C>A (p.Gln145Lys)	CARD14 (Q145K)	Single nucleotide variant (missense variant +1 more)	CARD14-related disorder +4 more	GUncertain significance
Select item 68781	NM_001366385.1(CARD14):c.449T>G (p.Leu150Arg)	CARD14 (L150R)	Single nucleotide variant (missense variant +1 more)	CARD14-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 458107	NM_001366385.1(CARD14):c.599G>T (p.Ser200Ile)	CARD14 (S200I)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +4 more	GBenign/Likely benign
Select item 1636081	NM_001366385.1(CARD14):c.675+8G>A	CARD14	Single nucleotide variant (intron variant)	CARD14-related disorder +2 more	GLikely benign
Select item 458108	NM_001366385.1(CARD14):c.709A>C (p.Asn237His)	CARD14 (N237H)	Single nucleotide variant (missense variant +2 more)	Pityriasis rubra pilaris +3 more	GBenign
Select item 1476693	NM_001366385.1(CARD14):c.1012A>G (p.Met338Val)	CARD14 (M101V +1 more)	Single nucleotide variant (missense variant)	CARD14-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 782964	NM_001366385.1(CARD14):c.1091C>T (p.Ala364Val)	CARD14 (A364V +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +3 more	GConflicting classifications of pathogenicity
Select item 1148221	NM_001366385.1(CARD14):c.1179G>A (p.Thr393=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +2 more	GLikely benign
Select item 1152307	NM_001366385.1(CARD14):c.1188C>G (p.Val396=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 527885	NM_001366385.1(CARD14):c.1356+4C>T	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +3 more	GConflicting classifications of pathogenicity
Select item 861971	NM_001366385.1(CARD14):c.1356+5G>A	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +4 more	GUncertain significance
Select item 1085092	NM_001366385.1(CARD14):c.1371G>C (p.Ser457=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	CARD14-related disorder +2 more	GLikely benign
Select item 527890	NM_001366385.1(CARD14):c.1385C>T (p.Thr462Met)	CARD14 (T462M +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +4 more	GConflicting classifications of pathogenicity
Select item 527877	NM_001366385.1(CARD14):c.1386G>A (p.Thr462=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +2 more	GBenign/Likely benign
Select item 1167265	NM_001366385.1(CARD14):c.1395C>T (p.Arg465=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	CARD14-related disorder +2 more	GBenign/Likely benign
Select item 1043577	NM_001366385.1(CARD14):c.1396G>A (p.Glu466Lys)	CARD14 (E229K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1164447	NM_001366385.1(CARD14):c.1518G>A (p.Pro506=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	CARD14-related disorder +3 more	GBenign/Likely benign
Select item 2949571	NM_001366385.1(CARD14):c.1557C>T (p.Gly519=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +2 more	GLikely benign
Select item 1103668	NM_001366385.1(CARD14):c.1594+9G>A	CARD14	Single nucleotide variant (intron variant)	CARD14-related disorder +2 more	GLikely benign
Select item 527875	NM_001366385.1(CARD14):c.1653G>A (p.Ser551=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +3 more	GLikely benign
Select item 527874	NM_001366385.1(CARD14):c.1659-10C>T	CARD14	Single nucleotide variant (intron variant)	CARD14-related disorder +2 more	GLikely benign
Select item 527883	NM_001366385.1(CARD14):c.1662C>T (p.Gly554=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +3 more	GBenign
Select item 3047669	NM_001366385.1(CARD14):c.1734A>G (p.Ala578=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	CARD14-related disorder	GLikely benign
Select item 458089	NM_001366385.1(CARD14):c.1759G>A (p.Gly587Ser)	CARD14 (G587S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 527879	NM_001366385.1(CARD14):c.1806G>A (p.Ser602=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +4 more	GBenign/Likely benign
Select item 2629588	NM_001366385.1(CARD14):c.1851+107C>T	CARD14 (T416I)	Single nucleotide variant (missense variant +1 more)	CARD14-related disorder	GUncertain significance
Select item 3039595	NM_001366385.1(CARD14):c.1851+114C>T	CARD14	Single nucleotide variant (synonymous variant +1 more)	CARD14-related disorder	GBenign
Select item 3036726	NM_001366385.1(CARD14):c.1851+175G>A	CARD14	Single nucleotide variant (3 prime UTR variant +1 more)	CARD14-related disorder	GLikely benign
Select item 3042687	NM_001366385.1(CARD14):c.1979-26_1979-16del	CARD14, SGSH	Microsatellite (intron variant)	CARD14-related disorder	GLikely benign
Select item 1169217	NM_001366385.1(CARD14):c.1998G>A (p.Gln666=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	CARD14-related disorder +2 more	GBenign/Likely benign
Select item 722970	NM_001366385.1(CARD14):c.2139C>T (p.Cys713=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	CARD14-related disorder +2 more	GLikely benign
Select item 1165098	NM_001366385.1(CARD14):c.2219+14T>G	CARD14, SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	CARD14-related disorder +3 more	GBenign
Select item 458095	NM_001366385.1(CARD14):c.2267G>A (p.Cys756Tyr)	CARD14, SGSH (C756Y)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +3 more	GBenign/Likely benign
Select item 527888	NM_001366385.1(CARD14):c.2335G>A (p.Ala779Thr)	CARD14, SGSH (A779T)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +3 more	GBenign/Likely benign
Select item 572536	NM_001366385.1(CARD14):c.2476C>T (p.Arg826Trp)	SGSH, CARD14 +1 more (R826W)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2635206	NM_001366385.1(CARD14):c.2663G>C (p.Arg888Pro)	CARD14, LOC126862662 +1 more (R888P)	Single nucleotide variant (missense variant +1 more)	CARD14-related disorder	GUncertain significance
Select item 756518	NM_001366385.1(CARD14):c.2691+10A>T	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	CARD14-related disorder +2 more	GLikely benign
Select item 1463441	NM_001366385.1(CARD14):c.2807+10C>G	CARD14, SGSH	Single nucleotide variant (intron variant)	CARD14-related disorder +2 more	GLikely benign
Select item 458100	NM_001366385.1(CARD14):c.2853G>A (p.Glu951=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +4 more	GBenign
Select item 458101	NM_001366385.1(CARD14):c.2859G>A (p.Ala953=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 1347490	NM_001366385.1(CARD14):c.2884C>T (p.Arg962Trp)	CARD14, SGSH (R962W)	Single nucleotide variant (missense variant +1 more)	CARD14-related disorder +4 more	GUncertain significance
Select item 68780	NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu)	CARD14, SGSH (D973E)	Single nucleotide variant (missense variant +1 more)	CARD14-related disorder +4 more	GBenign/Likely benign

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Items: 49